The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease
Background. Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants of the GLA gene. Heterozygous female patients may show much more variability in clinical manifestations, ranging from asymptomatic to full-blown disease. Because of this heterogeneous clinical pict...
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Main Authors: | Mónica Furlano, Elisabet Ars, Anna Matamala, Vicens Brossa, Joan Martí, Maria del Prado-Venegas, Jaume Crespi, Esther Roe, Roser Torra |
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Format: | Article |
Language: | English |
Published: |
Wiley
2022-01-01
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Series: | Case Reports in Genetics |
Online Access: | http://dx.doi.org/10.1155/2022/3208810 |
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